Canonical Allele Identifier: CA2465004028
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 988699
ClinVar RCV Id: RCV001291023
dbSNP Id: rs2089306333
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483044_149483048del , CM000685.2:g.149483044_149483048del GRCh38
NC_000023.10:g.148564575_148564579del , CM000685.1:g.148564575_148564579del GRCh37
NC_000023.9:g.148372480_148372484del NCBI36
NG_011900.3:g.27289_27293del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1353_1357del MANE Select ENSP00000339801.6:p.Tyr452ProfsTer3
ENST00000651111.1:c.720_724del ENSP00000498395.1:p.Tyr241ProfsTer3
ENST00000340855.10:c.1353_1357del ENSP00000339801.6:p.Tyr452ProfsTer3
ENST00000422081.6:c.720_724del ENSP00000477056.1:p.Tyr241ProfsTer3
NM_000202.6:c.1353_1357del NP_000193.1:p.Tyr452ProfsTer3
NM_001166550.2:c.1083_1087del NP_001160022.1:p.Tyr362ProfsTer3
NM_000202.7:c.1353_1357del NP_000193.1:p.Tyr452ProfsTer3
NM_001166550.3:c.1083_1087del NP_001160022.1:p.Tyr362ProfsTer3
NM_000202.8:c.1353_1357del MANE Select NP_000193.1:p.Tyr452ProfsTer3
NM_001166550.4:c.1083_1087del NP_001160022.1:p.Tyr362ProfsTer3
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